Search Results - "Zara, Togher"

Late-Onset Tay-Sachs (LOTS) disease presenting with a neuromuscular phenotype – a case series by Sarah, Fullam, Zara, Togher, Alan, Power, John C, McHugh, Sean, O’Dowd, Aisling, Ryan, Stela, Lefter, Sean, Connolly, Sinead M, Murphy

“…BackgroundTay-Sachs disease is a rare, and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in ß-Hexosaminidase A (HEX A) leads to…”
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Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network by Hewitt, Katie, Starr, Neasa, Togher, Zara, Sulong, Saadah, Morris, Joseph P, Alexander, Michael, Coyne, Mark, Murphy, Katie, Giblin, Gerard, Murphy, Sinéad M, Joyce, Emer

“…Background Variant transthyretin amyloidosis (ATTRv) is a hereditary multisystem disorder with clinical spectrum ranging from predominant cardiomyopathy to…”
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Brachiocephalic artery aneurysm plaque rupture, stroke & repair by O'Dwyer, Marliza, Togher, Zara, Lim, Sean-Tee, Ryan, Marie, Garcia-Gallardo, Angela, O'Connell, Karen, Tolan, Michael J.

“…A 70 year old left-handed man presented to his general practitioner with abnormal left arm movements, left hemianopia and loss of balance. He was found to have…”
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A Case of Neural Integrator Failure in Vitamin B1 Deficiency. (P1-9.004) by Chen, Hongying, Warfield, Niall, Nannery, Ciaran, Togher, Zara, Yacoob, Yaseen

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Urbach Wiethe Disease: uncovering the role of an ECM1 mutation in BBB dysfunction by Brennan, Declan, Greene, Chris, Togher Zara, Hutchinson, Siobhan, Doherty, Colin, Campbell, Matthew

“…IntroductionA mutation in the ECM1 gene results in a rare autosomal recessive disorder associated with the clinical syndrome lipoid proteinosis, also known as…”
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LOTS in the Needle Examination (P5-13.010) by Togher, Zara, Gan, Sue Zann, McHugh, John, O’Dowd, Sean, Murphy, Sinead

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A case of Urbach-Wiethe disease associated with ictal fear (4474) by Togher, Zara, Redmond, Aine, Troy, Emma, Penugonda, Maitreyi, Crumlish, Niall, Langan, Yvonne, Hutchinson, Siobhan

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Potential eligibility for Aducanumab therapy in an Irish specialist cognitive service—Utilising cerebrospinal fluid biomarkers and appropriate use criteria by Togher, Zara, Dolphin, Helena, Russell, Caoimh, Ryan, Marie, Kennelly, Séan P., O'Dowd, Séan

“…Objectives Aducanumab is a monoclonal antibody which has recently been licenced for use by the food and drug administration for treatment of patients with mild…”
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An evaluation of optimal tutorial methodologies for neurology teaching at undergraduate level: Optimal tutorial methods for neurology by Togher, Zara, Fullam, Sarah, Callanan, Ian, Kearney, Hugh, Tubridy, Niall

“…Aim We aim to determine the efficacy of an intensive week of large group tutorials in the teaching of neurology to medical students. We also look to compare…”
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Cytomegalovirus Infection – Not So (H)armless (2382) by Togher, Zara, Higgins, Eibhlin, Gunko, Alex, Doyle, Michael, Fullam, Sarah, Tubridy, Niall, Connolly, Sean, Feeney, Eoin, McGuigan, Christopher

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Late‐onset Tay−Sachs disease presenting with a neuromuscular phenotype—a case series by Fullam, Sarah, Togher, Zara, Power, Alan, Kennelly, Laura, McHugh, John C., O'Dowd, Sean, Tubridy, Niall, Hardiman, Orla, Costigan, Donal, Ryan, Aisling, Lefter, Stela, Connolly, Sean, Murphy, Sinead M.

“…Background and purpose Tay−Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in β‐hexosaminidase leads to…”
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Now you See Me, Now you Don't! Rapid Spontaneous Resolution of Aqueductal Obstruction by Togher, Zara, Walsh, Mary Catherine, Fullam, Sarah, Cotter, Paul, Crowley, Paul

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Safety monitoring of alemtuzumab therapy in active relapsing multiple sclerosis: necessary, manageable but resource-intensive. (P5.401) by Yap, Siew Mei, O’Donnell, Luke, Togher, Zara, Dillon, Mary, McNicholas, Nuala, Tubridy, Niall, Hutchinson, Michael, McGuigan, Christopher

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A Hiker’s Tale: Cytomegalovirus associated extensive transverse myelitis (P3.306) by O’Donnell, Luke, Iyer, Parameswaran, Togher, Zara, Nduwke, Dina, Tubridy, Niall, Feeney, Eoin, Cotter, Aoife, O’Rourke, Anna, Kinsella, Justin

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Seek and you will find: an unusual immune mediated encephalitis with multiple neuronal antibodies. (P6.196) by O’Donnell, Luke, Iyer, Parameswaran, Togher, Zara, Nduwke, Dina, Alhatmi, Sulaiman, McGuigan, Christopher, McCormick, Aidan, Westbrook, Andrew, Feeney, Eoin, Irani, Sarosh, Kinsella, Justin

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Brachiocephalic artery aneurysm plaque rupture, stroke & repair by O'Dwyer, Marliza, Togher, Zara, Lim, Sean-Tee, Ryan, Marie, Garcia-Gallardo, Angela, O'Connell, Karen, Tolan, Michael J

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Now you see me, now you don't! Rapid spontaneous resolution of aqueductal obstruction by Togher, Zara, Walsh, Mary Catherine, Fullam, Sarah, Cotter, Paul, Crowley, Paul

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